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Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Disease definition
A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.
ORPHA:488613
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Childhood
- ICD-10: F84.8
- OMIM: 616973
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)
Detailed information
Disease review articles
- Clinical genetics review
- English (2020) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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